Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs967815855
rs967815855
ERBB2
0.882 0.120 17 39723607 missense variant G/A snv
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2016 2016
dbSNP: rs61552325
rs61552325
ERBB2
0.882 0.080 17 39727784 missense variant C/G snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs527779103
rs527779103
ERBB2
0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs564064363
rs564064363
ERBB2
0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs527779103
rs527779103
ERBB2
0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs564064363
rs564064363
ERBB2
0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1324255598
rs1324255598
ERBB2 ; MIR4728
1.000 0.080 17 39725780 missense variant C/G snv 4.0E-06
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1801200
rs1801200
ERBB2
0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs2643194
rs2643194
ERBB2 ; PGAP3
0.925 0.080 17 39696795 5 prime UTR variant C/T snv 0.67
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2934971
rs2934971
ERBB2
0.925 0.080 17 39698254 intron variant G/T snv 0.66
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2012 2012
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 < 0.001 1 2008 2008
dbSNP: rs767151455
rs767151455
ERBB2
0.925 0.080 17 39708379 missense variant C/T snv 8.0E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2012 2012
dbSNP: rs758204762
rs758204762
ERBB2
0.925 0.080 17 39712330 missense variant G/A;C snv 4.0E-06; 1.6E-05
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 1.000 1 2015 2015
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs967815855
rs967815855
ERBB2
0.882 0.120 17 39723607 missense variant G/A snv
CUI: C0278802
Disease: Recurrent Endometrial Cancer
Recurrent Endometrial Cancer 		0.010 1.000 1 2012 2012
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2004 2004